CARD11 (caspase recruitment domain family member 11)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84433
Gene name Gene Name - the full gene name approved by the HGNC.
Caspase recruitment domain family member 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CARD11
Synonyms (NCBI Gene) Gene synonyms aliases
BENTA, BIMP3, CARMA1, IMD11, IMD11A, PPBL
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p22.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This p
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
SNP ID Visualize variation Clinical significance Consequence
rs144358235 G>A Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs145474800 G>A,T Pathogenic, uncertain-significance Synonymous variant, coding sequence variant, missense variant
rs200456391 G>A Likely-pathogenic, uncertain-significance Intron variant
rs201780608 G>A Not-provided, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs397514686 G>A Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
miRTarBase ID miRNA Experiments Reference
MIRT020564 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT041621 hsa-miR-146b-5p CLASH 23622248
MIRT038232 hsa-miR-330-5p CLASH 23622248
MIRT020564 hsa-miR-155-5p Microarray 23807165
MIRT441006 hsa-miR-218-5p HITS-CLIP 23212916
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(53)
GO ID Ontology Definition Evidence Reference
GO:0001772 Component Immunological synapse IBA
GO:0001772 Component Immunological synapse IEA
GO:0002376 Process Immune system process IEA
GO:0004385 Function GMP kinase activity NAS 11278692
GO:0005515 Function Protein binding IPI 12154360, 16809782, 17287217, 17948050, 19118383, 19444310, 19706536, 19815501, 21157432, 22528498, 27777308, 31296852
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607210 16393 ENSG00000198286
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9BXL7
Protein name Caspase recruitment domain-containing protein 11 (CARD-containing MAGUK protein 1) (Carma 1)
Protein function Adapter protein that plays a key role in adaptive immune response by transducing the activation of NF-kappa-B downstream of T-cell receptor (TCR) and B-cell receptor (BCR) engagement (PubMed:11278692, PubMed:11356195, PubMed:12356734). Transduce
PDB 4JUP , 4LWD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00619 CARD 23 → 109 Caspase recruitment domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in adult peripheral blood leukocytes, thymus, spleen and liver. Also found in promyelocytic leukemia HL-60 cells, chronic myelogenous leukemia K-562 cells, Burkitt's lymphoma Raji cells and colorectal adenocarcinoma SW480 cell
Sequence 
MPGGGPEMDDYMETLKDEEDALWENVECNRHMLSRYINPAKLTPYLRQCKVIDEQDEDEV
LNAPMLPSKINRAGRLLDILHTKGQRGYVVFLESLEFYYPELYKLVTGKEPTRRFSTIVV
EEGHEGLTHFLMNEVIKLQQQMKAKDLQRCELLARLRQLEDEKKQMTLTRVELLTFQERY
YKMKEERDSYNDELVKVKDDNYNLAMRYAQLSEEKNMAVMRSRDLQLEIDQLKHRLNKME
EECKLERNQSLKLKNDIENRPKKEQVLELERENEMLKTKNQELQSIIQAGKRSLPDSDKA
ILDILEHDRKEALEDRQELVNRIYNLQEEARQAEELRDKYLEEKEDLELKCSTLGKDCEM
YKHRMNTVMLQLEEVERERDQAFHSRDEAQTQYSQCLIEKDKYRKQIRELEEKNDEMRIE
MVRREACIVNLESKLRRLSKDSNNLDQSLPRNLPVTIISQDFGDASPRTNGQEADDSSTS
EESPEDSKYFLPYHPPQRRMNLKGIQLQRAKSPISLKRTSDFQAKGHEEEGTDASPSSCG
SLPITNSFTKMQPPRSRSSIMSITAEPPGNDSIVRRYKEDAPHRSTVEEDNDSGGFDALD
LDDDSHERYSFGPSSIHSSSSSHQSEGLDAYDLEQVNLMFRKFSLERPFRPSVTSVGHVR
GPGPSVQHTTLNGDSLTSQLTLLGGNARGSFVHSVKPGSLAEKAGLREGHQLLLLEGCIR
GERQSVPLDTCTKEEAHWTIQRCSGPVTLHYKVNHEGYRKLVKDMEDGLITSGDSFYIRL
NLNISSQLDACTMSLKCDDVVHVRDTMYQDRHEWLCARVDPFTDHDLDMGTIPSYSRAQQ
LLLVKLQRLMHRGSREEVDGTHHTLRALRNTLQPEEALSTSDPRVSPRLSRASFLFGQLL
QFVSRSENKYKRMNSNERVRIISGSPLGSLARSSLDATKLLTEKQEELDPESELGKNLSL
IPYSLVRAFYCERRRPVLFTPTVLAKTLVQRLLNSGGAMEFTICKSDIVTRDEFLRRQKT
ETIIYSREKNPNAFECIAPANIEAVAAKNKHCLLEAGIGCTRDLIKSNIYPIVLFIRVCE
KNIKRFRKLLPRPETEEEFLRVCRLKEKELEALPCLYATVEPDMWGSVEELLRVVKDKIG
EEQRKTIWVDEDQL
Sequence length 1154
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  NF-kappa B signaling pathway
T cell receptor signaling pathway
B cell receptor signaling pathway 		  Activation of NF-kappaB in B cells
Downstream TCR signaling
FCERI mediated NF-kB activation
CLEC7A (Dectin-1) signaling
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
B-Cell Expansion With NFKB And T-Cell Anergy benta disease rs387907351, rs387907352, rs571517554, rs794729673 N/A
Immunodeficiency 11b with atopic dermatitis immunodeficiency 11b with atopic dermatitis rs145474800 N/A
Severe combined immunodeficiency disease severe combined immunodeficiency due to card11 deficiency rs397514686 N/A
Show/Hide Unknown Diseases (11)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Asthma Nonatopic asthma, Asthma N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Show/Hide Text Mining Associations (70)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abruzzo Erickson syndrome Associate 30170123
Adenocarcinoma of Lung Associate 35238419
Agammaglobulinemia Associate 35651609
Autoimmune Diseases Associate 36405754
Autoimmune enteropathy Associate 30170123
Carcinoma Ovarian Epithelial Associate 24740199
Carcinoma Renal Cell Associate 32473470
Carcinoma Squamous Cell Stimulate 26212909
Carcinoma Squamous Cell Associate 30445744, 35651609
CD8 Deficiency Familial Associate 37562721